The Hadassah Medical Organization’s Center of Excellence for Pediatric Metabolic Diseases is highlighted in an article dealing with research on obscure metabolic disorders in the January 2006 issue of Nature Medicine. The magazine is a biomedical research journal devoted to publishing the latest and most exciting advances in biomedical research for scientists and physicians.

Hadassah’s Center of Excellence for Pediatric Metabolic Diseases is one of Hadassah International’s main fundraising projects this year.

In the article, entitled “Inbred Israeli Families Aid Research on Rare Diseases,” Dr. Orly Elpeleg, Director of Hadassah’s Metabolic Center, is quoted extensively about her research at Hadassah involving genetic abnormalities within ethnic groups who arrange marriages between close relatives. Israel, Dr. Elpeleg points out, is a great place to do genetic research because there are many families of this sort.

“The disorders,” Dr. Elpeleg states, “stem from abnormalities in mitochondria, organelles that power the cell’s activities.” She explains: “When the mitochondria are defective, the entire metabolism is flawed, everything is stuck—it’s like blocking traffic at the biggest intersection next to a large city.”

The article points out that “mitochondrial defects are notoriously difficult to diagnose because their symptoms vary greatly.” Abnormalities in the organelle can lead to kidney dysfunction, high blood pressure, hearing impairment, dementia, and stroke. In children, they can cause liver failure, mental retardation, and fatal muscle weakness.

“The fact that so many genes are involved in the functioning of the mitochondria, and that each mutated gene causes its own symptoms, probably explains the baffling diversity of mitochondrial disorders,” Dr. Elpeleg says.

The article highlights the fact that in 2001, in collaboration with researchers at Haifa’s Rambam Medical Center, Dr. Elpeleg’s team identified two genes that interfere with mitochondrial DNA synthesis. Most recently, based on her work in one large Muslim-Bedouin family, Dr. Elpeleg found yet another gene that interferes with DNA synthesis through a different mechanism and causes encephalopathy, a degenerative disease of the brain.

“There is no treatment yet for mitochondrial disorders, but pinpointing their genetic causes is a move in that direction,” Dr. Elpeleg noted.

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